41572006: Mucopolysaccharidosis III-A (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Sanfilippo syndrome\Mucopolysaccharidosis, MPS-III-A
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Sanfilippo syndrome\Mucopolysaccharidosis, MPS-III-A
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Sanfilippo syndrome\Mucopolysaccharidosis, MPS-III-A
• \Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Sanfilippo syndrome\Mucopolysaccharidosis, MPS-III-A
• \Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Sanfilippo syndrome\Mucopolysaccharidosis, MPS-III-A

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
2982779017	Mucopolysaccharidosis III-A (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
493024011	N-sulphoglucosamine sulphohydrolase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
493025012	Heparan-N-sulphatase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
493026013	Heparan sulphamidase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
493027016	Heparan sulphate sulphatase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
493028014	Heparan sulfamidase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
493029018	Heparan-N-sulfatase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
493030011	MPSIIIA - Mucopolysaccharidosis type IIIA	en	Synonym	Active	Case sensitive	SNOMED CT core
493031010	MPS III-A - Mucopolysaccharidosis III-A	en	Synonym	Active	Case sensitive	SNOMED CT core
493032015	Mucopolysaccharidosis type IIIA	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
493033013	Sanfilippo syndrome A	en	Synonym	Active	Case sensitive	SNOMED CT core
493034019	Mucopolysaccharidosis III-A	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
69343016	Mucopolysaccharidosis, MPS-III-A	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
69344010	Sanfilippo syndrome, type A	en	Synonym	Active	Case sensitive	SNOMED CT core
69345011	Heparan sulfate sulfatase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
69346012	N-sulfoglucosamine sulfohydrolase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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